Concomitant Variants in NF1, LZTR1, and GNAZ Genes Probably Contribute to the Aggressiveness of Plexiform Neurofibroma and Warrant Treatment with MEK Inhibitor

xlomafota13 shared this article with you from Inoreader Concomitant Variants in NF1, LZTR1, and GNAZ Genes Probably Contribute to the Aggressiveness of Plexiform Neurofibroma and Warrant Treatment with MEK Inhibitor Via Experimental Dermatology Abstract Neurofibromatosis 1 (NF1) is caused by germline mutations in the NF1 gene and manifests as proliferation of various tissues, including plexiform neurofibromas. The plexiform neurofibroma phenotype varies from indolent to locally aggressive, suggesting contributions of other modifiers in addition to somatic loss of NF1. Here, we investigated a life-threatening plexiform neurofibroma in a 9-month-old female infant with NF1. Germline mutations in two Rasopathy-associated genes were identified using whole exome sequencing - a de-novo pathogenic variant in the NF1 gene, and a known pathogenic variant in the LZTR1 gene. Somatic analysis of the plexiform neurofibroma revealed NF1 loss of heterozygosity and a variant in GNAZ, a gene encoding a G Protein Coupled Receptor. Cells expressing mutant GNAZ exhibited increased ERK 1,2 activation compared to those expressing wild type GNAZ. Taken together, we suggest the variants in NF1, LZRT1, and GNAZ act synergistically in our patient, leading to MAPK pathway activation and contributing to the severity of the patient's plexiform neurofibromatosis. After treatment with the MEK inhibitor, trametinib, a prominent clinical improvement was observed in this patient. This case study contributes to the knowledge of germline and somatic non-NF1 variants affecting the NF1 clinical phenotype and supports use of personalized, targeted therapy. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Skin Color Match in Head and Neck Reconstructive Surgery

xlomafota13 shared this article with you from Inoreader Skin Color Match in Head and Neck Reconstructive Surgery Via The Laryngoscope Objectives/Hypothesis To quantify the degree of color match achieved during microvascular facial reconstruction, and to describe a novel technique for improving reconstructive skin color match. We hypothesize that split-thickness skin grafts (STSG) placed atop de-epithelialized free tissue produces better facial skin color match than free tissue with intact epithelium. Study Design Cross sectional photographic study of reconstructed facial skin color match. Methods Sixty-eight adults, who underwent head and neck reconstructive surgery, were divided into six categories based on cutaneous reconstructive technique: cervicofacial flap, radial forearm free flap (RFFF), fibula free flap, anterolateral thigh free flap (ALT), STSG over adiopofascial flap (STAFF), and STSG over myogenous flap (STMF). Averaged color samplings of the reconstructed defect and adjacent normal skin were taken from digital photographs. The color difference was calculated using the delta-E calculation. Blinded expert observers also rated the degree of color match. Nonparametric cohort contrast and correlation statistical analyses were performed. Results The mean delta-E's and 10-point Likert ratings for the ALT, fibula, RFFF, STAFF, STMF, and cervicofacial flaps were 11.6, 10.0, 7.7, 6.3, 8.8, and 4.7, and 5.1, 6.4, 2.4, 3.2, 2.7, and 1.1, respectively. Likert scale inter-rater correlation was strong, with coefficient = 0.80. Conclusions On average, STSG over de-epithelialized myogenous and adipofascial free tissue transfers produced a better color match than the skin paddles of donor sites, with the exception of the radial forearm donor site. Delta-E values obtained from photos correlated well with expert ratings of color match. This reliable technique for quantifying color match may be used in future studies. Level of Evidence 3 Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

UK Guidelines for Lipomodelling of the Breast on behalf of Plastic, Reconstructive and Aesthetic Surgery and Association of Breast Surgery Expert Advisory Group

xlomafota13 shared this article with you from Inoreader UK Guidelines for Lipomodelling of the Breast on behalf of Plastic, Reconstructive and Aesthetic Surgery and Association of Breast Surgery Expert Advisory Group Via Journal of plastic, reconstructive & aesthetic surgery : JPRAS J Plast Reconstr Aesthet Surg. 2021 Oct 19:S1748-6815(21)00473-3. doi: 10.1016/j.bjps.2021.09.033. Online ahead of print. ABSTRACT Lipomodelling has become increasingly popular for reconstructive, aesthetic and therapeutic indications. The guidelines summarise available evidence for indications, training, technique, audit and outcomes in lipomodelling and also highlight areas for further research. PMID:34895855 | DOI:10.1016/j.bjps.2021.09.033 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Chromophobe renal cell carcinoma-like thyroid carcinoma: possible misdiagnosis as metastatic renal cell carcinoma

xlomafota13 shared this article with you from Inoreader Chromophobe renal cell carcinoma-like thyroid carcinoma: possible misdiagnosis as metastatic renal cell carcinoma Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 Nov 15;14(11):1095-1101. eCollection 2021. ABSTRACT To date, multiple thyroid cancer variants have been reported. Herein, we report a rare case of chromophobe renal cell carcinoma-like thyroid carcinoma (CRETHCA) in a 60-year-old woman, for which the morphologic findings resembled those of chromophobe renal cell carcinoma (ChRCC). ChRCC of the kidney is characterized by large polygonal tumor cells with distinct cell borders, perinuclear clearing, multiple binucleate cells, and strongly positive immunostaining for paired box gene 8 (PAX8) and carbonic anhydrase IX (CA IX). In our case, the thyroid gland tumor was incidentally detected by routine medical screening without sufficient medical information; it showed similar histology and immunohistochemical features to ChRCC and was initially misdiagnosed as metastatic ChRCC. Additional tests, including kidney computed tomography and positron emission tomography, revealed no abnormalities in the patient's kidney; therefore, we diagnosed the tumor as CRETHCA. Focal weak staining for thyroid transcription factor 1 (TTF-1) was the only supporting evidence that it was a primary thyroid neoplasm. To the best of our knowledge, this is the second report of CRETHCA in literature. This novel variant is very difficult to distinguish from metastatic ChRCC and can be a diagnostic challenge for pathologists. Further studies of similar cases should be done to define this new entity. PMID:34900078 | PMC:PMC8661068 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Sinonasal blue nevus: a case report and review

xlomafota13 shared this article with you from Inoreader Sinonasal blue nevus: a case report and review Via ear nose throat Ear Nose Throat J. 2021 Dec 10:1455613211064014. doi: 10.1177/01455613211064014. Online ahead of print. ABSTRACT Blue nevus is a type of uncommon benign pigmented lesion in the skin or the mucosa of human body which is featured by pigmented dendritic melanocytes and spindled melanocytic cells. Sinonasal blue nevus is extremely rare. We reported a sinonasal blue nevus case with the background of pituitary adenoma, type 2 diabetes mellitus, and hypertension (including endoscop ic and histological pictures). Further, the existing literature about blue nevus is reviewed. This paper puts a spotlight on the potential correlation between blue nevus with the endocrine system disorder and provides support for further experimental research. PMID:34892997 | DOI:10.1177/01455613211064014 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Mucosal Epithelial Preservation of Free Nasal Grafts Depending on the Recipient Site

xlomafota13 shared this article with you from Inoreader Mucosal Epithelial Preservation of Free Nasal Grafts Depending on the Recipient Site Via The Laryngoscope Objectives/Hypothesis Reconstruction of mucosal defects using free mucosal grafts has become a common procedure during endoscopic sinus surgery. Epithelialization of mucosal grafts affects postoperative complications and outcomes, which could be influenced by different recipient tissue. However, morphological changes occurring in the grafts transplanted over different tissues remain unexplored. Study Design An animal study. Methods Free mucoperichondrial grafts were prepared from the nasal septum of rabbits; the cartilage group had reconstruction on the nasal septal cartilage, and the perichondrium group had reconstruction on the contralateral perichondrium. The nasal septum was removed after 1 and 4 weeks of reconstruction, and the graft was histologically evaluated. Results After 1 week of reconstruction, the mucosal epithelium of grafts in the cartilage group disappeared, whereas the columnar epithelium of grafts was preserved in the perichondrium group. After 4 weeks of reconstruction, the mucosal defect site was covered with mucosal epithelium in both groups. However, while squamous epithelium was mostly observed in the cartilage group, columnar epithelium containing the healthy ciliary and goblet cells was observed in the perichondrium group. Statistically significant differences were detected in the parameters of epithelial morphology between the two groups, which were higher in the perichondrium group. Conclusions In the reconstruction of mucosal defects using free mucosal grafts, difference in recipient tissue affects the graft epithelial morphology. Level of Evidence NA Laryngoscope, 2021 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Overcoming Vaccine Hesitancy Around Bell Palsy in Otolaryngology–Head and Neck Surgery—Reply

xlomafota13 shared this article with you from Inoreader Overcoming Vaccine Hesitancy Around Bell Palsy in Otolaryngology–Head and Neck Surgery—Reply Via JAMA Otolaryngology–Head & Neck Surgery Online First In Reply We thank the authors of the Letter to the Editor for stimulating further discussion. Tamaki et al explored the relationship between COVID-19 and the COVID-19 vaccine on Bell palsy (BP). Patients were counted as having Bell palsy if they received a diagnosis of International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) code G51.0. Granular patient-level data may be lacking in an analysis of this magnitude, and it was not possible to differentiate persistent or recurrent BP. Likewise, it is difficult to accurately quality check the accuracy of coding without the benefit of reviewing clinical data. We plan to expand on our work with further analysis. We agree that research using large databases may be at risk for misclassification. However, such databases can be an effective resource i n studying rare pathologies, especially in specific populations such as those who have had COVID-19 or received the COVID-19 vaccination. Our propensity score matched analysis suggests that rates of BP are higher in patients who are positive for COVID-19 and this incidence exceeds the reported incidence of BP with the COVID-19 vaccine. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.